DNA微阵列在临床诊断中的应用。

Application of DNA Microarray to Clinical Diagnostics.

作者信息

Patel Ankita, Cheung Sau W

机构信息

Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

出版信息

Methods Mol Biol. 2016;1368:111-32. doi: 10.1007/978-1-4939-3136-1_9.

DOI:10.1007/978-1-4939-3136-1_9

PMID:26614072

Abstract

Microarray-based technology to conduct array comparative genomic hybridization (aCGH) has made a significant impact on the diagnosis of human genetic diseases. Such diagnoses, previously undetectable by traditional G-banding chromosome analysis, are now achieved by identifying genomic copy number variants (CNVs) using the microarray. Not only can hundreds of well-characterized genetic syndromes be detected in a single assay, but new genomic disorders and disease-causing genes can also be discovered through the utilization of aCGH technology. Although other platforms such as single nucleotide polymorphism (SNP) arrays can be used for detecting CNVs, in this chapter we focus on describing the methods for performing aCGH using Agilent oligonucleotide arrays for both prenatal (e.g., amniotic fluid and chorionic villus sample) and postnatal samples (e.g., blood).

摘要

基于微阵列的技术来进行阵列比较基因组杂交（aCGH），已对人类遗传疾病的诊断产生了重大影响。此类诊断以前通过传统的G显带染色体分析无法检测到，现在通过使用微阵列识别基因组拷贝数变异（CNV）得以实现。不仅可以在一次检测中检测出数百种特征明确的遗传综合征，还可以通过利用aCGH技术发现新的基因组疾病和致病基因。尽管其他平台如单核苷酸多态性（SNP）阵列可用于检测CNV，但在本章中，我们重点描述使用安捷伦寡核苷酸阵列对产前样本（如羊水和绒毛膜绒毛样本）和产后样本（如血液）进行aCGH的方法。